TMEM43 (transmembrane protein 43)

Gene

• Entrez ID: 79188
• Gene name: Transmembrane protein 43
• Gene symbol: TMEM43
• Synonyms (NCBI Gene): ARVC5, ARVD5, AUNA3, EDMD7, EDMD7; AUNA2, LUMA
• Chromosome: 3
• Chromosome location: 3p25.1
• Summary: This gene belongs to the TMEM43 family. Defects in this gene are the cause of familial arrhythmogenic right ventricular dysplasia type 5 (ARVD5), also known as arrhythmogenic right ventricular cardiomyopathy type 5 (ARVC5). Arrhythmogenic right ventricula

SNPs

SNP ID	Visualize variation	Clinical significance	Consequence
rs63750743	C>T	Pathogenic	Coding sequence variant, missense variant
rs116911972	T>C	Benign, conflicting-interpretations-of-pathogenicity, benign-likely-benign	Missense variant, coding sequence variant
rs144152046	C>T	Conflicting-interpretations-of-pathogenicity, likely-benign	Missense variant, coding sequence variant
rs144811578	A>G	Pathogenic, likely-benign, uncertain-significance	Coding sequence variant, missense variant
rs151010429	G>A,T	Pathogenic, uncertain-significance, conflicting-interpretations-of-pathogenicity	Coding sequence variant, missense variant
rs397514044	G>A	Pathogenic	Missense variant, coding sequence variant
rs533275736	C>T	Uncertain-significance, conflicting-interpretations-of-pathogenicity	Missense variant, coding sequence variant
rs754797146	C>A,G	Conflicting-interpretations-of-pathogenicity, uncertain-significance	Missense variant, coding sequence variant, synonymous variant
rs778127887	C>T	Likely-pathogenic	Coding sequence variant, stop gained
rs794729179	G>A	Likely-pathogenic	Missense variant, coding sequence variant

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT001406	hsa-miR-16-5p	pSILAC	18668040
MIRT022952	hsa-miR-124-3p	Microarray	18668037
MIRT025854	hsa-miR-7-5p	Microarray	19073608
MIRT027185	hsa-miR-103a-3p	Sequencing	20371350
MIRT001406	hsa-miR-16-5p	Sequencing	20371350
MIRT001406	hsa-miR-16-5p	Proteomics;Other	18668040
MIRT046472	hsa-miR-15b-5p	CLASH	23622248
MIRT665767	hsa-miR-320d	HITS-CLIP	23824327
MIRT665766	hsa-miR-320b	HITS-CLIP	23824327
MIRT665765	hsa-miR-320a	HITS-CLIP	23824327
MIRT665764	hsa-miR-320c	HITS-CLIP	23824327
MIRT665763	hsa-miR-4429	HITS-CLIP	23824327
MIRT665762	hsa-miR-142-5p	HITS-CLIP	23824327
MIRT665761	hsa-miR-5590-3p	HITS-CLIP	23824327
MIRT665760	hsa-miR-627-3p	HITS-CLIP	23824327
MIRT665759	hsa-miR-2115-5p	HITS-CLIP	23824327
MIRT665758	hsa-miR-9-3p	HITS-CLIP	23824327
MIRT665757	hsa-miR-340-5p	HITS-CLIP	23824327
MIRT665756	hsa-miR-4753-3p	HITS-CLIP	23824327
MIRT665755	hsa-miR-4768-5p	HITS-CLIP	23824327
MIRT665754	hsa-miR-6833-3p	HITS-CLIP	23824327
MIRT665753	hsa-miR-6809-3p	HITS-CLIP	23824327
MIRT465882	hsa-miR-7155-5p	PAR-CLIP	23446348
MIRT465881	hsa-miR-6499-3p	PAR-CLIP	23446348
MIRT465880	hsa-miR-4731-5p	PAR-CLIP	23446348
MIRT520595	hsa-miR-4505	PAR-CLIP	23446348
MIRT520594	hsa-miR-5787	PAR-CLIP	23446348
MIRT465879	hsa-miR-342-5p	PAR-CLIP	23446348
MIRT465878	hsa-miR-4664-5p	PAR-CLIP	23446348
MIRT465877	hsa-miR-4651	PAR-CLIP	23446348
MIRT465876	hsa-miR-608	PAR-CLIP	23446348
MIRT465875	hsa-miR-6747-5p	PAR-CLIP	23446348
MIRT465874	hsa-miR-3650	PAR-CLIP	23446348
MIRT465873	hsa-miR-143-5p	PAR-CLIP	23446348
MIRT465872	hsa-miR-7977	PAR-CLIP	23446348
MIRT465871	hsa-miR-6737-5p	PAR-CLIP	23446348
MIRT465869	hsa-miR-6812-5p	PAR-CLIP	23446348
MIRT465870	hsa-miR-6819-5p	PAR-CLIP	23446348
MIRT465868	hsa-miR-6776-5p	PAR-CLIP	23446348
MIRT465897	hsa-miR-651-3p	PAR-CLIP	23592263
MIRT465895	hsa-miR-6758-5p	PAR-CLIP	23592263
MIRT465896	hsa-miR-6856-5p	PAR-CLIP	23592263
MIRT465894	hsa-miR-3125	PAR-CLIP	23592263
MIRT465893	hsa-miR-3916	PAR-CLIP	23592263
MIRT465892	hsa-miR-6859-5p	PAR-CLIP	23592263
MIRT465891	hsa-miR-4496	PAR-CLIP	23592263
MIRT465890	hsa-miR-4476	PAR-CLIP	23592263
MIRT465889	hsa-miR-6876-5p	PAR-CLIP	23592263
MIRT465888	hsa-miR-455-3p	PAR-CLIP	23592263
MIRT465887	hsa-miR-1910-5p	PAR-CLIP	23592263
MIRT465886	hsa-miR-4264	PAR-CLIP	23592263
MIRT465885	hsa-miR-1252-5p	PAR-CLIP	23592263
MIRT465884	hsa-miR-4261	PAR-CLIP	23592263
MIRT465883	hsa-miR-4533	PAR-CLIP	23592263
MIRT465882	hsa-miR-7155-5p	PAR-CLIP	23592263
MIRT465881	hsa-miR-6499-3p	PAR-CLIP	23592263
MIRT465880	hsa-miR-4731-5p	PAR-CLIP	23592263
MIRT465879	hsa-miR-342-5p	PAR-CLIP	23592263
MIRT465878	hsa-miR-4664-5p	PAR-CLIP	23592263
MIRT465877	hsa-miR-4651	PAR-CLIP	23592263
MIRT465876	hsa-miR-608	PAR-CLIP	23592263
MIRT465875	hsa-miR-6747-5p	PAR-CLIP	23592263
MIRT465874	hsa-miR-3650	PAR-CLIP	23592263
MIRT465873	hsa-miR-143-5p	PAR-CLIP	23592263
MIRT465872	hsa-miR-7977	PAR-CLIP	23592263
MIRT465871	hsa-miR-6737-5p	PAR-CLIP	23592263
MIRT465869	hsa-miR-6812-5p	PAR-CLIP	23592263
MIRT465870	hsa-miR-6819-5p	PAR-CLIP	23592263
MIRT465868	hsa-miR-6776-5p	PAR-CLIP	23592263
MIRT665767	hsa-miR-320d	HITS-CLIP	23824327
MIRT665766	hsa-miR-320b	HITS-CLIP	23824327
MIRT665765	hsa-miR-320a	HITS-CLIP	23824327
MIRT665764	hsa-miR-320c	HITS-CLIP	23824327
MIRT665763	hsa-miR-4429	HITS-CLIP	23824327
MIRT665762	hsa-miR-142-5p	HITS-CLIP	23824327
MIRT665761	hsa-miR-5590-3p	HITS-CLIP	23824327
MIRT665760	hsa-miR-627-3p	HITS-CLIP	23824327
MIRT665759	hsa-miR-2115-5p	HITS-CLIP	23824327
MIRT665758	hsa-miR-9-3p	HITS-CLIP	23824327
MIRT665757	hsa-miR-340-5p	HITS-CLIP	23824327
MIRT665756	hsa-miR-4753-3p	HITS-CLIP	23824327
MIRT665755	hsa-miR-4768-5p	HITS-CLIP	23824327
MIRT665754	hsa-miR-6833-3p	HITS-CLIP	23824327
MIRT665753	hsa-miR-6809-3p	HITS-CLIP	23824327
MIRT465882	hsa-miR-7155-5p	PAR-CLIP	23446348
MIRT465881	hsa-miR-6499-3p	PAR-CLIP	23446348
MIRT465880	hsa-miR-4731-5p	PAR-CLIP	23446348
MIRT520595	hsa-miR-4505	PAR-CLIP	23446348
MIRT520594	hsa-miR-5787	PAR-CLIP	23446348
MIRT465879	hsa-miR-342-5p	PAR-CLIP	23446348
MIRT465878	hsa-miR-4664-5p	PAR-CLIP	23446348
MIRT465877	hsa-miR-4651	PAR-CLIP	23446348
MIRT465876	hsa-miR-608	PAR-CLIP	23446348
MIRT465875	hsa-miR-6747-5p	PAR-CLIP	23446348
MIRT465874	hsa-miR-3650	PAR-CLIP	23446348
MIRT465873	hsa-miR-143-5p	PAR-CLIP	23446348
MIRT465872	hsa-miR-7977	PAR-CLIP	23446348
MIRT465871	hsa-miR-6737-5p	PAR-CLIP	23446348
MIRT465869	hsa-miR-6812-5p	PAR-CLIP	23446348
MIRT465870	hsa-miR-6819-5p	PAR-CLIP	23446348
MIRT465868	hsa-miR-6776-5p	PAR-CLIP	23446348
MIRT465897	hsa-miR-651-3p	PAR-CLIP	23592263
MIRT465895	hsa-miR-6758-5p	PAR-CLIP	23592263
MIRT465896	hsa-miR-6856-5p	PAR-CLIP	23592263
MIRT465894	hsa-miR-3125	PAR-CLIP	23592263
MIRT465893	hsa-miR-3916	PAR-CLIP	23592263
MIRT465892	hsa-miR-6859-5p	PAR-CLIP	23592263
MIRT465891	hsa-miR-4496	PAR-CLIP	23592263
MIRT465890	hsa-miR-4476	PAR-CLIP	23592263
MIRT465889	hsa-miR-6876-5p	PAR-CLIP	23592263
MIRT465888	hsa-miR-455-3p	PAR-CLIP	23592263
MIRT465887	hsa-miR-1910-5p	PAR-CLIP	23592263
MIRT465886	hsa-miR-4264	PAR-CLIP	23592263
MIRT465885	hsa-miR-1252-5p	PAR-CLIP	23592263
MIRT465884	hsa-miR-4261	PAR-CLIP	23592263
MIRT465883	hsa-miR-4533	PAR-CLIP	23592263
MIRT465882	hsa-miR-7155-5p	PAR-CLIP	23592263
MIRT465881	hsa-miR-6499-3p	PAR-CLIP	23592263
MIRT465880	hsa-miR-4731-5p	PAR-CLIP	23592263
MIRT465879	hsa-miR-342-5p	PAR-CLIP	23592263
MIRT465878	hsa-miR-4664-5p	PAR-CLIP	23592263
MIRT465877	hsa-miR-4651	PAR-CLIP	23592263
MIRT465876	hsa-miR-608	PAR-CLIP	23592263
MIRT465875	hsa-miR-6747-5p	PAR-CLIP	23592263
MIRT465874	hsa-miR-3650	PAR-CLIP	23592263
MIRT465873	hsa-miR-143-5p	PAR-CLIP	23592263
MIRT465872	hsa-miR-7977	PAR-CLIP	23592263
MIRT465871	hsa-miR-6737-5p	PAR-CLIP	23592263
MIRT465869	hsa-miR-6812-5p	PAR-CLIP	23592263
MIRT465870	hsa-miR-6819-5p	PAR-CLIP	23592263
MIRT465868	hsa-miR-6776-5p	PAR-CLIP	23592263
MIRT1437365	hsa-miR-1207-3p	CLIP-seq
MIRT1437366	hsa-miR-1244	CLIP-seq
MIRT1437367	hsa-miR-1252	CLIP-seq
MIRT1437368	hsa-miR-1256	CLIP-seq
MIRT1437369	hsa-miR-1283	CLIP-seq
MIRT1437370	hsa-miR-1293	CLIP-seq
MIRT1437371	hsa-miR-1296	CLIP-seq
MIRT1437372	hsa-miR-1304	CLIP-seq
MIRT1437373	hsa-miR-132	CLIP-seq
MIRT1437374	hsa-miR-1587	CLIP-seq
MIRT1437375	hsa-miR-15a	CLIP-seq
MIRT1437376	hsa-miR-15b	CLIP-seq
MIRT1437377	hsa-miR-16	CLIP-seq
MIRT1437378	hsa-miR-188-3p	CLIP-seq
MIRT1437379	hsa-miR-1910	CLIP-seq
MIRT1437380	hsa-miR-194	CLIP-seq
MIRT1437381	hsa-miR-195	CLIP-seq
MIRT1437382	hsa-miR-1972	CLIP-seq
MIRT1437383	hsa-miR-1976	CLIP-seq
MIRT1437384	hsa-miR-199a-5p	CLIP-seq
MIRT1437385	hsa-miR-199b-5p	CLIP-seq
MIRT1437386	hsa-miR-200b	CLIP-seq
MIRT1437387	hsa-miR-200c	CLIP-seq
MIRT1437388	hsa-miR-2110	CLIP-seq
MIRT1437389	hsa-miR-2115	CLIP-seq
MIRT1437390	hsa-miR-212	CLIP-seq
MIRT1437391	hsa-miR-214	CLIP-seq
MIRT1437392	hsa-miR-219-5p	CLIP-seq
MIRT1437393	hsa-miR-22	CLIP-seq
MIRT1437394	hsa-miR-2467-3p	CLIP-seq
MIRT1437395	hsa-miR-3074-5p	CLIP-seq
MIRT1437396	hsa-miR-3121-3p	CLIP-seq
MIRT1437397	hsa-miR-3128	CLIP-seq
MIRT1437398	hsa-miR-3150a-3p	CLIP-seq
MIRT1437399	hsa-miR-3165	CLIP-seq
MIRT1437400	hsa-miR-3170	CLIP-seq
MIRT1437401	hsa-miR-3184	CLIP-seq
MIRT1437402	hsa-miR-3194-3p	CLIP-seq
MIRT1437403	hsa-miR-331-5p	CLIP-seq
MIRT1437404	hsa-miR-33a	CLIP-seq
MIRT1437405	hsa-miR-33b	CLIP-seq
MIRT1437406	hsa-miR-340	CLIP-seq
MIRT1437407	hsa-miR-346	CLIP-seq
MIRT1437408	hsa-miR-3591-3p	CLIP-seq
MIRT1437409	hsa-miR-3606	CLIP-seq
MIRT1437410	hsa-miR-3616-5p	CLIP-seq
MIRT1437411	hsa-miR-3619-5p	CLIP-seq
MIRT1437412	hsa-miR-3622b-5p	CLIP-seq
MIRT1437413	hsa-miR-3647-5p	CLIP-seq
MIRT1437414	hsa-miR-3652	CLIP-seq
MIRT1437415	hsa-miR-3653	CLIP-seq
MIRT1437416	hsa-miR-3658	CLIP-seq
MIRT1437417	hsa-miR-3660	CLIP-seq
MIRT1437418	hsa-miR-3676	CLIP-seq
MIRT1437419	hsa-miR-3678-3p	CLIP-seq
MIRT1437420	hsa-miR-370	CLIP-seq
MIRT1437421	hsa-miR-3919	CLIP-seq
MIRT1437422	hsa-miR-3942-3p	CLIP-seq
MIRT1437423	hsa-miR-3945	CLIP-seq
MIRT1437424	hsa-miR-3973	CLIP-seq
MIRT1437425	hsa-miR-423-5p	CLIP-seq
MIRT1437426	hsa-miR-424	CLIP-seq
MIRT1437427	hsa-miR-4253	CLIP-seq
MIRT1437428	hsa-miR-4257	CLIP-seq
MIRT1437429	hsa-miR-4259	CLIP-seq
MIRT1437430	hsa-miR-4271	CLIP-seq
MIRT1437431	hsa-miR-4276	CLIP-seq
MIRT1437432	hsa-miR-4277	CLIP-seq
MIRT1437433	hsa-miR-4283	CLIP-seq
MIRT1437434	hsa-miR-4288	CLIP-seq
MIRT1437435	hsa-miR-429	CLIP-seq
MIRT1437436	hsa-miR-4302	CLIP-seq
MIRT1437437	hsa-miR-4422	CLIP-seq
MIRT1437438	hsa-miR-4430	CLIP-seq
MIRT1437439	hsa-miR-4445	CLIP-seq
MIRT1437440	hsa-miR-4455	CLIP-seq
MIRT1437441	hsa-miR-4471	CLIP-seq
MIRT1437442	hsa-miR-4480	CLIP-seq
MIRT1437443	hsa-miR-4481	CLIP-seq
MIRT1437444	hsa-miR-4483	CLIP-seq
MIRT1437445	hsa-miR-4487	CLIP-seq
MIRT1437446	hsa-miR-4492	CLIP-seq
MIRT1437447	hsa-miR-4498	CLIP-seq
MIRT1437448	hsa-miR-4508	CLIP-seq
MIRT1437449	hsa-miR-4509	CLIP-seq
MIRT1437450	hsa-miR-450b-5p	CLIP-seq
MIRT1437451	hsa-miR-4511	CLIP-seq
MIRT1437452	hsa-miR-4512	CLIP-seq
MIRT1437453	hsa-miR-4514	CLIP-seq
MIRT1437454	hsa-miR-4520a-5p	CLIP-seq
MIRT1437455	hsa-miR-4520b-5p	CLIP-seq
MIRT1437456	hsa-miR-4526	CLIP-seq
MIRT1437457	hsa-miR-4633-3p	CLIP-seq
MIRT1437458	hsa-miR-4643	CLIP-seq
MIRT1437459	hsa-miR-4645-5p	CLIP-seq
MIRT1437460	hsa-miR-4650-5p	CLIP-seq
MIRT1437461	hsa-miR-4655-5p	CLIP-seq
MIRT1437462	hsa-miR-4656	CLIP-seq
MIRT1437463	hsa-miR-4659a-3p	CLIP-seq
MIRT1437464	hsa-miR-4659b-3p	CLIP-seq
MIRT1437465	hsa-miR-466	CLIP-seq
MIRT1437466	hsa-miR-4673	CLIP-seq
MIRT1437467	hsa-miR-4675	CLIP-seq
MIRT1437468	hsa-miR-4678	CLIP-seq
MIRT1437469	hsa-miR-4692	CLIP-seq
MIRT1437470	hsa-miR-4693-3p	CLIP-seq
MIRT1437471	hsa-miR-4703-3p	CLIP-seq
MIRT1437472	hsa-miR-4711-3p	CLIP-seq
MIRT1437473	hsa-miR-4715-5p	CLIP-seq
MIRT1437474	hsa-miR-4720-5p	CLIP-seq
MIRT1437475	hsa-miR-4725-3p	CLIP-seq
MIRT1437476	hsa-miR-4727-5p	CLIP-seq
MIRT1437477	hsa-miR-4741	CLIP-seq
MIRT1437478	hsa-miR-4745-5p	CLIP-seq
MIRT1437479	hsa-miR-4755-3p	CLIP-seq
MIRT1437480	hsa-miR-4756-3p	CLIP-seq
MIRT1437481	hsa-miR-4758-5p	CLIP-seq
MIRT1437482	hsa-miR-4763-5p	CLIP-seq
MIRT1437483	hsa-miR-4766-5p	CLIP-seq
MIRT1437484	hsa-miR-4769-3p	CLIP-seq
MIRT1437485	hsa-miR-4778-5p	CLIP-seq
MIRT1437486	hsa-miR-4782-3p	CLIP-seq
MIRT1437487	hsa-miR-4789-3p	CLIP-seq
MIRT1437488	hsa-miR-4799-3p	CLIP-seq
MIRT1437489	hsa-miR-486-5p	CLIP-seq
MIRT1437490	hsa-miR-497	CLIP-seq
MIRT1437491	hsa-miR-501-5p	CLIP-seq
MIRT1437492	hsa-miR-507	CLIP-seq
MIRT1437493	hsa-miR-508-3p	CLIP-seq
MIRT1437494	hsa-miR-520d-5p	CLIP-seq
MIRT1437495	hsa-miR-524-5p	CLIP-seq
MIRT1437496	hsa-miR-526b	CLIP-seq
MIRT1437497	hsa-miR-545	CLIP-seq
MIRT1437498	hsa-miR-548a-5p	CLIP-seq
MIRT1437499	hsa-miR-548ab	CLIP-seq
MIRT1437500	hsa-miR-548ae	CLIP-seq
MIRT1437501	hsa-miR-548aj	CLIP-seq
MIRT1437502	hsa-miR-548ak	CLIP-seq
MIRT1437503	hsa-miR-548am	CLIP-seq
MIRT1437504	hsa-miR-548b-3p	CLIP-seq
MIRT1437505	hsa-miR-548b-5p	CLIP-seq
MIRT1437506	hsa-miR-548c-5p	CLIP-seq
MIRT1437507	hsa-miR-548d-5p	CLIP-seq
MIRT1437508	hsa-miR-548h	CLIP-seq
MIRT1437509	hsa-miR-548i	CLIP-seq
MIRT1437510	hsa-miR-548j	CLIP-seq
MIRT1437511	hsa-miR-548k	CLIP-seq
MIRT1437512	hsa-miR-548w	CLIP-seq
MIRT1437513	hsa-miR-548x	CLIP-seq
MIRT1437514	hsa-miR-548y	CLIP-seq
MIRT1437515	hsa-miR-550a	CLIP-seq
MIRT1437516	hsa-miR-557	CLIP-seq
MIRT1437517	hsa-miR-559	CLIP-seq
MIRT1437518	hsa-miR-573	CLIP-seq
MIRT1437519	hsa-miR-603	CLIP-seq
MIRT1437520	hsa-miR-609	CLIP-seq
MIRT1437521	hsa-miR-615-5p	CLIP-seq
MIRT1437522	hsa-miR-622	CLIP-seq
MIRT1437523	hsa-miR-632	CLIP-seq
MIRT1437524	hsa-miR-635	CLIP-seq
MIRT1437525	hsa-miR-651	CLIP-seq
MIRT1437526	hsa-miR-7	CLIP-seq
MIRT1437527	hsa-miR-761	CLIP-seq
MIRT1437528	hsa-miR-762	CLIP-seq
MIRT1437529	hsa-miR-921	CLIP-seq
MIRT1437530	hsa-miR-940	CLIP-seq
MIRT1437531	hsa-miR-942	CLIP-seq
MIRT1437374	hsa-miR-1587	CLIP-seq
MIRT1437414	hsa-miR-3652	CLIP-seq
MIRT1437438	hsa-miR-4430	CLIP-seq
MIRT1437443	hsa-miR-4481	CLIP-seq
MIRT1437445	hsa-miR-4487	CLIP-seq
MIRT1437446	hsa-miR-4492	CLIP-seq
MIRT1437447	hsa-miR-4498	CLIP-seq
MIRT1437462	hsa-miR-4656	CLIP-seq
MIRT1437467	hsa-miR-4675	CLIP-seq
MIRT1437477	hsa-miR-4741	CLIP-seq
MIRT1437478	hsa-miR-4745-5p	CLIP-seq
MIRT1437481	hsa-miR-4758-5p	CLIP-seq
MIRT1437528	hsa-miR-762	CLIP-seq
MIRT1437367	hsa-miR-1252	CLIP-seq
MIRT2131060	hsa-miR-1253	CLIP-seq
MIRT1437368	hsa-miR-1256	CLIP-seq
MIRT2131061	hsa-miR-143	CLIP-seq
MIRT2131062	hsa-miR-147	CLIP-seq
MIRT1437375	hsa-miR-15a	CLIP-seq
MIRT1437376	hsa-miR-15b	CLIP-seq
MIRT1437377	hsa-miR-16	CLIP-seq
MIRT1437379	hsa-miR-1910	CLIP-seq
MIRT1437381	hsa-miR-195	CLIP-seq
MIRT1437382	hsa-miR-1972	CLIP-seq
MIRT1437386	hsa-miR-200b	CLIP-seq
MIRT1437387	hsa-miR-200c	CLIP-seq
MIRT1437391	hsa-miR-214	CLIP-seq
MIRT2131063	hsa-miR-302f	CLIP-seq
MIRT1437397	hsa-miR-3128	CLIP-seq
MIRT2131064	hsa-miR-3133	CLIP-seq
MIRT2131065	hsa-miR-3160-3p	CLIP-seq
MIRT1437400	hsa-miR-3170	CLIP-seq
MIRT1437402	hsa-miR-3194-3p	CLIP-seq
MIRT1437403	hsa-miR-331-5p	CLIP-seq
MIRT2131066	hsa-miR-361-5p	CLIP-seq
MIRT2131067	hsa-miR-3617	CLIP-seq
MIRT1437411	hsa-miR-3619-5p	CLIP-seq
MIRT1437414	hsa-miR-3652	CLIP-seq
MIRT1437416	hsa-miR-3658	CLIP-seq
MIRT1437418	hsa-miR-3676	CLIP-seq
MIRT1437422	hsa-miR-3942-3p	CLIP-seq
MIRT2131068	hsa-miR-3944-5p	CLIP-seq
MIRT1437423	hsa-miR-3945	CLIP-seq
MIRT1437424	hsa-miR-3973	CLIP-seq
MIRT2131069	hsa-miR-3976	CLIP-seq
MIRT1437426	hsa-miR-424	CLIP-seq
MIRT1437427	hsa-miR-4253	CLIP-seq
MIRT2131070	hsa-miR-4269	CLIP-seq
MIRT1437435	hsa-miR-429	CLIP-seq
MIRT1437437	hsa-miR-4422	CLIP-seq
MIRT1437438	hsa-miR-4430	CLIP-seq
MIRT1437440	hsa-miR-4455	CLIP-seq
MIRT1437443	hsa-miR-4481	CLIP-seq
MIRT1437445	hsa-miR-4487	CLIP-seq
MIRT1437458	hsa-miR-4643	CLIP-seq
MIRT1437462	hsa-miR-4656	CLIP-seq
MIRT1437465	hsa-miR-466	CLIP-seq
MIRT1437468	hsa-miR-4678	CLIP-seq
MIRT2131071	hsa-miR-4726-3p	CLIP-seq
MIRT2131072	hsa-miR-4729	CLIP-seq
MIRT1437478	hsa-miR-4745-5p	CLIP-seq
MIRT1437481	hsa-miR-4758-5p	CLIP-seq
MIRT2131073	hsa-miR-4770	CLIP-seq
MIRT1437487	hsa-miR-4789-3p	CLIP-seq
MIRT1437490	hsa-miR-497	CLIP-seq
MIRT2131074	hsa-miR-500a	CLIP-seq
MIRT1437491	hsa-miR-501-5p	CLIP-seq
MIRT1437497	hsa-miR-545	CLIP-seq
MIRT2131075	hsa-miR-548al	CLIP-seq
MIRT1437504	hsa-miR-548b-3p	CLIP-seq
MIRT1437511	hsa-miR-548k	CLIP-seq
MIRT2131076	hsa-miR-556-5p	CLIP-seq
MIRT2131077	hsa-miR-558	CLIP-seq
MIRT2131078	hsa-miR-576-3p	CLIP-seq
MIRT2131079	hsa-miR-581	CLIP-seq
MIRT2131080	hsa-miR-595	CLIP-seq
MIRT1437520	hsa-miR-609	CLIP-seq
MIRT1437524	hsa-miR-635	CLIP-seq
MIRT2131081	hsa-miR-641	CLIP-seq
MIRT2131082	hsa-miR-642b	CLIP-seq
MIRT2131083	hsa-miR-671-5p	CLIP-seq
MIRT1437527	hsa-miR-761	CLIP-seq
MIRT2352345	hsa-miR-1225-3p	CLIP-seq
MIRT2352346	hsa-miR-1233	CLIP-seq
MIRT1437367	hsa-miR-1252	CLIP-seq
MIRT2131060	hsa-miR-1253	CLIP-seq
MIRT2352347	hsa-miR-129-3p	CLIP-seq
MIRT2352348	hsa-miR-138	CLIP-seq
MIRT2131061	hsa-miR-143	CLIP-seq
MIRT1437374	hsa-miR-1587	CLIP-seq
MIRT1437375	hsa-miR-15a	CLIP-seq
MIRT1437376	hsa-miR-15b	CLIP-seq
MIRT1437377	hsa-miR-16	CLIP-seq
MIRT1437381	hsa-miR-195	CLIP-seq
MIRT1437382	hsa-miR-1972	CLIP-seq
MIRT1437386	hsa-miR-200b	CLIP-seq
MIRT1437387	hsa-miR-200c	CLIP-seq
MIRT1437391	hsa-miR-214	CLIP-seq
MIRT1437400	hsa-miR-3170	CLIP-seq
MIRT1437407	hsa-miR-346	CLIP-seq
MIRT2352349	hsa-miR-3611	CLIP-seq
MIRT2131066	hsa-miR-361-5p	CLIP-seq
MIRT1437410	hsa-miR-3616-5p	CLIP-seq
MIRT1437411	hsa-miR-3619-5p	CLIP-seq
MIRT1437413	hsa-miR-3647-5p	CLIP-seq
MIRT1437416	hsa-miR-3658	CLIP-seq
MIRT2352350	hsa-miR-3929	CLIP-seq
MIRT2131069	hsa-miR-3976	CLIP-seq
MIRT1437426	hsa-miR-424	CLIP-seq
MIRT2131070	hsa-miR-4269	CLIP-seq
MIRT1437431	hsa-miR-4276	CLIP-seq
MIRT1437434	hsa-miR-4288	CLIP-seq
MIRT1437435	hsa-miR-429	CLIP-seq
MIRT2352351	hsa-miR-4299	CLIP-seq
MIRT1437436	hsa-miR-4302	CLIP-seq
MIRT2352352	hsa-miR-433	CLIP-seq
MIRT2352353	hsa-miR-4419b	CLIP-seq
MIRT2352354	hsa-miR-4434	CLIP-seq
MIRT2352355	hsa-miR-4478	CLIP-seq
MIRT1437442	hsa-miR-4480	CLIP-seq
MIRT1437446	hsa-miR-4492	CLIP-seq
MIRT1437447	hsa-miR-4498	CLIP-seq
MIRT2352356	hsa-miR-4516	CLIP-seq
MIRT1437458	hsa-miR-4643	CLIP-seq
MIRT1437462	hsa-miR-4656	CLIP-seq
MIRT1437463	hsa-miR-4659a-3p	CLIP-seq
MIRT2352357	hsa-miR-4659a-5p	CLIP-seq
MIRT1437464	hsa-miR-4659b-3p	CLIP-seq
MIRT2352358	hsa-miR-4659b-5p	CLIP-seq
MIRT1437465	hsa-miR-466	CLIP-seq
MIRT2352359	hsa-miR-4663	CLIP-seq
MIRT1437467	hsa-miR-4675	CLIP-seq
MIRT2352360	hsa-miR-4708-3p	CLIP-seq
MIRT1437472	hsa-miR-4711-3p	CLIP-seq
MIRT2352361	hsa-miR-4722-5p	CLIP-seq
MIRT1437476	hsa-miR-4727-5p	CLIP-seq
MIRT2131072	hsa-miR-4729	CLIP-seq
MIRT1437477	hsa-miR-4741	CLIP-seq
MIRT2352362	hsa-miR-4768-3p	CLIP-seq
MIRT1437484	hsa-miR-4769-3p	CLIP-seq
MIRT2131073	hsa-miR-4770	CLIP-seq
MIRT2352363	hsa-miR-4776-3p	CLIP-seq
MIRT1437487	hsa-miR-4789-3p	CLIP-seq
MIRT2352364	hsa-miR-4797-3p	CLIP-seq
MIRT1437490	hsa-miR-497	CLIP-seq
MIRT2131075	hsa-miR-548al	CLIP-seq
MIRT1437511	hsa-miR-548k	CLIP-seq
MIRT2131076	hsa-miR-556-5p	CLIP-seq
MIRT1437518	hsa-miR-573	CLIP-seq
MIRT1437523	hsa-miR-632	CLIP-seq
MIRT1437524	hsa-miR-635	CLIP-seq
MIRT2131082	hsa-miR-642b	CLIP-seq
MIRT1437527	hsa-miR-761	CLIP-seq
MIRT1437528	hsa-miR-762	CLIP-seq
MIRT1437531	hsa-miR-942	CLIP-seq
MIRT1437382	hsa-miR-1972	CLIP-seq
MIRT1437407	hsa-miR-346	CLIP-seq
MIRT1437416	hsa-miR-3658	CLIP-seq
MIRT1437434	hsa-miR-4288	CLIP-seq
MIRT1437523	hsa-miR-632	CLIP-seq
MIRT2646107	hsa-miR-129-5p	CLIP-seq
MIRT1437373	hsa-miR-132	CLIP-seq
MIRT2646108	hsa-miR-148a	CLIP-seq
MIRT2646109	hsa-miR-148b	CLIP-seq
MIRT2646110	hsa-miR-152	CLIP-seq
MIRT1437375	hsa-miR-15a	CLIP-seq
MIRT1437376	hsa-miR-15b	CLIP-seq
MIRT1437377	hsa-miR-16	CLIP-seq
MIRT1437380	hsa-miR-194	CLIP-seq
MIRT1437381	hsa-miR-195	CLIP-seq
MIRT1437386	hsa-miR-200b	CLIP-seq
MIRT1437387	hsa-miR-200c	CLIP-seq
MIRT2646111	hsa-miR-2052	CLIP-seq
MIRT1437390	hsa-miR-212	CLIP-seq
MIRT1437391	hsa-miR-214	CLIP-seq
MIRT1437395	hsa-miR-3074-5p	CLIP-seq
MIRT2131065	hsa-miR-3160-3p	CLIP-seq
MIRT1437400	hsa-miR-3170	CLIP-seq
MIRT2646112	hsa-miR-337-5p	CLIP-seq
MIRT1437408	hsa-miR-3591-3p	CLIP-seq
MIRT1437411	hsa-miR-3619-5p	CLIP-seq
MIRT1437422	hsa-miR-3942-3p	CLIP-seq
MIRT1437426	hsa-miR-424	CLIP-seq
MIRT1437431	hsa-miR-4276	CLIP-seq
MIRT1437435	hsa-miR-429	CLIP-seq
MIRT2646113	hsa-miR-4291	CLIP-seq
MIRT2352352	hsa-miR-433	CLIP-seq
MIRT1437437	hsa-miR-4422	CLIP-seq
MIRT2646114	hsa-miR-4477a	CLIP-seq
MIRT2646115	hsa-miR-4485	CLIP-seq
MIRT1437445	hsa-miR-4487	CLIP-seq
MIRT1437449	hsa-miR-4509	CLIP-seq
MIRT1437458	hsa-miR-4643	CLIP-seq
MIRT2352357	hsa-miR-4659a-5p	CLIP-seq
MIRT2352358	hsa-miR-4659b-5p	CLIP-seq
MIRT1437465	hsa-miR-466	CLIP-seq
MIRT2646116	hsa-miR-4705	CLIP-seq
MIRT1437483	hsa-miR-4766-5p	CLIP-seq
MIRT2352363	hsa-miR-4776-3p	CLIP-seq
MIRT1437487	hsa-miR-4789-3p	CLIP-seq
MIRT1437489	hsa-miR-486-5p	CLIP-seq
MIRT1437490	hsa-miR-497	CLIP-seq
MIRT2646117	hsa-miR-512-5p	CLIP-seq
MIRT1437497	hsa-miR-545	CLIP-seq
MIRT1437511	hsa-miR-548k	CLIP-seq
MIRT2131076	hsa-miR-556-5p	CLIP-seq
MIRT2131077	hsa-miR-558	CLIP-seq
MIRT2131080	hsa-miR-595	CLIP-seq
MIRT2646118	hsa-miR-607	CLIP-seq
MIRT1437520	hsa-miR-609	CLIP-seq
MIRT1437522	hsa-miR-622	CLIP-seq
MIRT1437524	hsa-miR-635	CLIP-seq
MIRT2131082	hsa-miR-642b	CLIP-seq
MIRT1437527	hsa-miR-761	CLIP-seq
MIRT2646119	hsa-miR-922	CLIP-seq
MIRT2646107	hsa-miR-129-5p	CLIP-seq
MIRT1437373	hsa-miR-132	CLIP-seq
MIRT2646108	hsa-miR-148a	CLIP-seq
MIRT2646109	hsa-miR-148b	CLIP-seq
MIRT2646110	hsa-miR-152	CLIP-seq
MIRT1437375	hsa-miR-15a	CLIP-seq
MIRT1437376	hsa-miR-15b	CLIP-seq
MIRT1437377	hsa-miR-16	CLIP-seq
MIRT1437380	hsa-miR-194	CLIP-seq
MIRT1437381	hsa-miR-195	CLIP-seq
MIRT1437386	hsa-miR-200b	CLIP-seq
MIRT1437387	hsa-miR-200c	CLIP-seq
MIRT2646111	hsa-miR-2052	CLIP-seq
MIRT1437390	hsa-miR-212	CLIP-seq
MIRT1437391	hsa-miR-214	CLIP-seq
MIRT2131063	hsa-miR-302f	CLIP-seq
MIRT1437395	hsa-miR-3074-5p	CLIP-seq
MIRT2131065	hsa-miR-3160-3p	CLIP-seq
MIRT1437400	hsa-miR-3170	CLIP-seq
MIRT1437408	hsa-miR-3591-3p	CLIP-seq
MIRT1437411	hsa-miR-3619-5p	CLIP-seq
MIRT1437422	hsa-miR-3942-3p	CLIP-seq
MIRT1437426	hsa-miR-424	CLIP-seq
MIRT1437431	hsa-miR-4276	CLIP-seq
MIRT1437435	hsa-miR-429	CLIP-seq
MIRT2352352	hsa-miR-433	CLIP-seq
MIRT1437437	hsa-miR-4422	CLIP-seq
MIRT2352354	hsa-miR-4434	CLIP-seq
MIRT2646114	hsa-miR-4477a	CLIP-seq
MIRT1437445	hsa-miR-4487	CLIP-seq
MIRT1437449	hsa-miR-4509	CLIP-seq
MIRT2352356	hsa-miR-4516	CLIP-seq
MIRT2693524	hsa-miR-4639-5p	CLIP-seq
MIRT1437458	hsa-miR-4643	CLIP-seq
MIRT2352357	hsa-miR-4659a-5p	CLIP-seq
MIRT2352358	hsa-miR-4659b-5p	CLIP-seq
MIRT1437465	hsa-miR-466	CLIP-seq
MIRT2646116	hsa-miR-4705	CLIP-seq
MIRT2352361	hsa-miR-4722-5p	CLIP-seq
MIRT1437483	hsa-miR-4766-5p	CLIP-seq
MIRT2352362	hsa-miR-4768-3p	CLIP-seq
MIRT2352363	hsa-miR-4776-3p	CLIP-seq
MIRT1437487	hsa-miR-4789-3p	CLIP-seq
MIRT1437489	hsa-miR-486-5p	CLIP-seq
MIRT1437490	hsa-miR-497	CLIP-seq
MIRT1437511	hsa-miR-548k	CLIP-seq
MIRT2131076	hsa-miR-556-5p	CLIP-seq
MIRT2131077	hsa-miR-558	CLIP-seq
MIRT2131080	hsa-miR-595	CLIP-seq
MIRT2646118	hsa-miR-607	CLIP-seq
MIRT1437520	hsa-miR-609	CLIP-seq
MIRT1437522	hsa-miR-622	CLIP-seq
MIRT1437524	hsa-miR-635	CLIP-seq
MIRT2131082	hsa-miR-642b	CLIP-seq
MIRT1437527	hsa-miR-761	CLIP-seq

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0002376	Process	Immune system process	IEA
GO:0005515	Function	Protein binding	IPI	21391237, 25416956, 25910212, 26871637, 32296183, 32814053
GO:0005634	Component	Nucleus	IEA
GO:0005637	Component	Nuclear inner membrane	IBA
GO:0005637	Component	Nuclear inner membrane	IEA
GO:0005783	Component	Endoplasmic reticulum	IEA
GO:0005788	Component	Endoplasmic reticulum lumen	IEA
GO:0005789	Component	Endoplasmic reticulum membrane	IEA
GO:0005794	Component	Golgi apparatus	IDA
GO:0005886	Component	Plasma membrane	IEA
GO:0006629	Process	Lipid metabolic process	IBA
GO:0016020	Component	Membrane	IEA
GO:0042802	Function	Identical protein binding	IEA
GO:0042802	Function	Identical protein binding	IPI	21391237
GO:0045087	Process	Innate immune response	IEA
GO:0071763	Process	Nuclear membrane organization	IBA
GO:0071763	Process	Nuclear membrane organization	IDA	18230648
GO:0071763	Process	Nuclear membrane organization	IEA

Other IDs

• MIM: 612048
• HGNC: 28472
• e!Ensembl: ENSG00000170876

Protein

• UniProt ID: Q9BTV4
• Protein name: Transmembrane protein 43 (Protein LUMA)
• Protein function: May have an important role in maintaining nuclear envelope structure by organizing protein complexes at the inner nuclear membrane. Required for retaining emerin at the inner nuclear membrane (By similarity). Plays a role in the modulation of in
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF07787	TMEM43	121 → 373	Transmembrane protein 43	Family

• Tissue specificity: TISSUE SPECIFICITY: Highest expression in placenta. Also found at lower levels in heart, ovary, spleen, small intestine, thymus, prostate and testis. {ECO:0000269|PubMed:18230648}.
• Sequence:

  MAANYSSTSTRREHVKVKTSSQPGFLERLSETSGGMFVGLMAFLLSFYLIFTNEGRALKT
  ATSLAEGLSLVVSPDSIHSVAPENEGRLVHIIGALRTSKLLSDPNYGVHLPAVKLRRHVE
  MYQWVETEESREYTEDGQVKKETRYSYNTEWRSEIINSKNFDREIGHKNPSAMAVESFMA
  TAPFVQIGRFFLSSGLIDKVDNFKSLSLSKLEDPHVDIIRRGDFFYHSENPKYPEVGDLR
  VSFSYAGLSGDDPDLGPAHVVTVIARQRGDQLVPFSTKSGDTLLLLHHGDFSAEEVFHRE
  LRSNSMKTWGLRAAGWMAMFMGLNLMTRILYTLVDWFPVFRDLVNIGLKAFAFCVATSLT
  LLTVAAGWLFYRPLWALLIAGLALVPILVARTRVPAKKLE

• Sequence length: 400

Pathways

KEGG:

Cytoskeleton in muscle cells

Associated diseases

Evidence Score:

• ★☆☆☆☆  Gene-disease association found in Text Mining only
• ★★☆☆☆  Found in Text Mining and Unknown/Other Associations
• ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources
• ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants)
• ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)

Causal
Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession	Evidence Score
Arrhythmogenic right ventricular cardiomyopathy	Pathogenic	rs63750743	RCV000039375	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Arrhythmogenic right ventricular dysplasia 5	Pathogenic; Likely pathogenic	rs63750743, rs1304467714	RCV000000770 RCV002466284	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Cardiomyopathy	Pathogenic	rs63750743	RCV001181315	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Cardiovascular phenotype	Pathogenic	rs63750743	RCV000621202	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Emery-Dreifuss muscular dystrophy 7, autosomal dominant	Likely pathogenic	rs2470179437	RCV003887821	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Familial isolated arrhythmogenic right ventricular dysplasia	Pathogenic	rs63750743	RCV000588763	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Hypertrophic cardiomyopathy	Pathogenic	rs63750743	RCV001254741	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Primary dilated cardiomyopathy	Pathogenic	rs63750743	RCV001375655	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)

Unknown / Other Associations
Phenotype Name	Clinical Significance	Source	Evidence Score
ARRHYTHMOGENIC RIGHT VENTRICULAR DYSPLASIA	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ARRHYTHMOGENIC RIGHT VENTRICULAR DYSPLASIA, FAMILIAL, 5	—	CTD, Disgenet, HPO CTD, Disgenet, HPO CTD, Disgenet, HPO	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Auditory neuropathy, autosomal dominant 3	Uncertain significance; Benign; Conflicting classifications of pathogenicity; Likely benign	ClinVar ClinVar, Disgenet, GenCC, HPO ClinVar, Disgenet, GenCC, HPO ClinVar, Disgenet, GenCC, HPO	★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
AUTOSOMAL DOMINANT EMERY-DREIFUSS MUSCULAR DYSTROPHY	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CARDIOMYOPATHIES	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CARDIOMYOPATHY, DILATED	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cervical cancer	Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Emery-Dreifuss muscular dystrophy 2, autosomal dominant	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
FAMILIAL ISOLATED ARRHYTHMOGENIC VENTRICULAR DYSPLASIA, BIVENTRICULAR FORM	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Left ventricular noncompaction cardiomyopathy	Uncertain significance	ClinVar Disgenet	★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
LIVER CIRRHOSIS, EXPERIMENTAL	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Long QT syndrome	Uncertain significance	ClinVar Disgenet	★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Ovarian serous cystadenocarcinoma	Benign; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Primary familial hypertrophic cardiomyopathy	Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Sarcoma	Uncertain significance; Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Squamous cell lung carcinoma	Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Sudden cardiac arrest	Benign; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Thyroid cancer, nonmedullary, 1	Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
TMEM43-related disorder	Uncertain significance; Conflicting classifications of pathogenicity; Benign; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
XERODERMA PIGMENTOSUM	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Anxiety	Anxiety disorder	Pubtator	34500452	Associate	★☆☆☆☆ Found in Text Mining only
Arrhythmogenic Right Ventricular Dysplasia	Arrhythmogenic right ventricular cardiomyopathy	Pubtator	15680719, 18313022, 20124997, 21636032, 25343256, 25445213, 32062046, 33831308, 34500452, 34930282, 38166344, 40055648	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Arrhythmogenic Right Ventricular Dysplasia	Arrhythmogenic right ventricular cardiomyopathy	LHGDN	18313022		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Arrhythmogenic Right Ventricular Dysplasia	Arrhythmogenic right ventricular cardiomyopathy	CLINVAR_DG	18313022, 21214875, 22458570, 22725725, 23812740, 24598986		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Arrhythmogenic Right Ventricular Dysplasia	Arrhythmogenic right ventricular cardiomyopathy	BEFREE	20124997, 21214875, 21267716, 21636032, 22458570, 22725725, 23812740, 24598986, 25343256, 26966288, 28960618, 29980933		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Arrhythmogenic Right Ventricular Dysplasia Familial 5	Arrhythmogenic right ventricular cardiomyopathy	Pubtator	18313022, 25343256, 32062046, 32858485	Associate	★☆☆☆☆ Found in Text Mining only
ARRHYTHMOGENIC RIGHT VENTRICULAR DYSPLASIA, FAMILIAL, 5 (disorder)	Arrhythmogenic right ventricular cardiomyopathy	CLINVAR_DG	18313022, 21214875, 23812740, 25343256		★☆☆☆☆ Found in Text Mining only
ARRHYTHMOGENIC RIGHT VENTRICULAR DYSPLASIA, FAMILIAL, 5 (disorder)	Arrhythmogenic right ventricular cardiomyopathy	UNIPROT_DG	18313022		★☆☆☆☆ Found in Text Mining only
ARRHYTHMOGENIC RIGHT VENTRICULAR DYSPLASIA, FAMILIAL, 5 (disorder)	Arrhythmogenic right ventricular cardiomyopathy	GENOMICS_ENGLAND_DG	26840987, 27532257		★☆☆☆☆ Found in Text Mining only
ARRHYTHMOGENIC RIGHT VENTRICULAR DYSPLASIA, FAMILIAL, 5 (disorder)	Arrhythmogenic right ventricular cardiomyopathy	CTD_human_DG			★☆☆☆☆ Found in Text Mining only
Arthritis Rheumatoid	Rheumatoid arthritis	Pubtator	33482886	Associate	★☆☆☆☆ Found in Text Mining only
Atrial Fibrillation	Atrial Fibrillation	HPO_DG			★☆☆☆☆ Found in Text Mining only
Atrioventricular Block	Atrioventricular block	HPO_DG			★☆☆☆☆ Found in Text Mining only
Autosomal dominant Emery-Dreifuss muscular dystrophy	Emery-Dreifuss Muscular Dystrophy	Orphanet			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Autosomal Dominant Emery-Dreifuss Muscular Dystrophy (disorder)	Emery-Dreifuss Muscular Dystrophy	ORPHANET_DG	21391237		★☆☆☆☆ Found in Text Mining only
Autosomal Dominant Emery-Dreifuss Muscular Dystrophy (disorder)	Emery-Dreifuss Muscular Dystrophy	CTD_human_DG			★☆☆☆☆ Found in Text Mining only
Autosomal Recessive Emery-Dreifuss Muscular Dystrophy	Emery-Dreifuss Muscular Dystrophy	CTD_human_DG			★☆☆☆☆ Found in Text Mining only
Blepharoptosis	Ptosis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Brain Neoplasms	Brain Neoplasms	BEFREE	27991920		★☆☆☆☆ Found in Text Mining only
Breast Carcinoma	Breast Carcinoma	BEFREE	24786600		★☆☆☆☆ Found in Text Mining only
Breast Neoplasms	Breast neoplasm	Pubtator	16643655, 30735795, 36304471, 37209182	Associate	★☆☆☆☆ Found in Text Mining only
Cardiomyopathies	Cardiomyopathy	BEFREE	23161701, 31567019		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cardiomyopathies	Cardiomyopathy	GENOMICS_ENGLAND_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cardiomyopathies	Cardiomyopathy	CLINVAR_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cardiomyopathy Dilated	Dilated cardiomyopathy	Pubtator	32916098, 34486814	Associate	★☆☆☆☆ Found in Text Mining only
Cardiomyopathy, Dilated	Cardiomyopathy	BEFREE	24598986		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cardiomyopathy, Dilated	Cardiomyopathy	HPO_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cardiovascular Diseases	Cardiovascular Diseases	BEFREE	27038728		★☆☆☆☆ Found in Text Mining only
Congenital pectus excavatum	Congenital Pectus Excavatum	HPO_DG			★☆☆☆☆ Found in Text Mining only
Congestive heart failure	Congestive Heart Failure	HPO_DG			★☆☆☆☆ Found in Text Mining only
Dyskinetic syndrome	Dyskinetic Syndrome	HPO_DG			★☆☆☆☆ Found in Text Mining only
EMERY-DREIFUSS MUSCULAR DYSTROPHY 7, AUTOSOMAL DOMINANT	Emery-Dreifuss Muscular Dystrophy	UNIPROT_DG	21391237		★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
EMERY-DREIFUSS MUSCULAR DYSTROPHY 7, AUTOSOMAL DOMINANT	Emery-Dreifuss Muscular Dystrophy	GENOMICS_ENGLAND_DG	26840987, 27532257		★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
EMERY-DREIFUSS MUSCULAR DYSTROPHY 7, AUTOSOMAL DOMINANT	Emery-Dreifuss Muscular Dystrophy	CLINVAR_DG			★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Familial isolated arrhythmogenic ventricular dysplasia, biventricular form	Arrhythmogenic right ventricular cardiomyopathy	Orphanet			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Familial isolated arrhythmogenic ventricular dysplasia, left dominant form	Arrhythmogenic right ventricular cardiomyopathy	Orphanet			★☆☆☆☆ Found in Text Mining only
Familial isolated arrhythmogenic ventricular dysplasia, right dominant form	Arrhythmogenic right ventricular cardiomyopathy	Orphanet			★☆☆☆☆ Found in Text Mining only
Flexion contracture - elbow	Elbow flexion contracture	HPO_DG			★☆☆☆☆ Found in Text Mining only
Hearing Disorders	Headache	Pubtator	35364395	Associate	★☆☆☆☆ Found in Text Mining only
Hearing Loss	Hearing loss	Pubtator	35364395	Associate	★☆☆☆☆ Found in Text Mining only
Heart Failure	Heart failure	Pubtator	18313022	Associate	★☆☆☆☆ Found in Text Mining only
Hypertrophic Cardiomyopathy	Hypertrophic cardiomyopathy	HPO_DG			★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Ichthyoses	Ichthyosis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Lipodystrophy	Lipodystrophy	HPO_DG			★☆☆☆☆ Found in Text Mining only
Lymphoproliferative Disorders	Lymphoproliferative syndrome	Pubtator	32062046	Associate	★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of breast	Breast Cancer	BEFREE	24786600		★☆☆☆☆ Found in Text Mining only
Muscular Dystrophies, Limb-Girdle	Limb-Girdle Muscular Dystrophy	HPO_DG			★☆☆☆☆ Found in Text Mining only
Muscular Dystrophy	Muscular dystrophy	HPO_DG			★☆☆☆☆ Found in Text Mining only
Muscular Dystrophy, Emery-Dreifuss	Emery-Dreifuss Muscular Dystrophy	BEFREE	21391237, 24365856		★☆☆☆☆ Found in Text Mining only
Muscular Dystrophy, Emery-Dreifuss	Emery-Dreifuss Muscular Dystrophy	CTD_human_DG			★☆☆☆☆ Found in Text Mining only
Myopathy	Myopathy	BEFREE	21391237		★☆☆☆☆ Found in Text Mining only
Obesity	Obesity	HPO_DG			★☆☆☆☆ Found in Text Mining only
Pancreatic Neoplasms	Pancreatic neoplasm	Pubtator	35260078	Stimulate	★☆☆☆☆ Found in Text Mining only
Proximal amyotrophy	Amyotrophy	HPO_DG			★☆☆☆☆ Found in Text Mining only
Ptosis	Ptosis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Right ventricular cardiomyopathy	Ventricular Cardiomyopathy	HPO_DG			★☆☆☆☆ Found in Text Mining only
Scoliosis, unspecified	Scoliosis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Sprengel deformity	Sprengel Deformity	HPO_DG			★☆☆☆☆ Found in Text Mining only
Tachycardia, Ventricular	Ventricular tachycardia	BEFREE	28960618		★☆☆☆☆ Found in Text Mining only
Tachycardia, Ventricular	Ventricular tachycardia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Ventricular arrhythmia	Ventricular arrhythmia	BEFREE	29158215		★☆☆☆☆ Found in Text Mining only
Ventricular Dysfunction Left	Ventricular dysfunction	Pubtator	32062046, 38166344	Associate	★☆☆☆☆ Found in Text Mining only
Ventricular Dysfunction Right	Ventricular dysfunction	Pubtator	38166344	Associate	★☆☆☆☆ Found in Text Mining only
Ventricular Remodeling	Ventricular remodeling	Pubtator	34930282	Associate	★☆☆☆☆ Found in Text Mining only
Vocal Cord Paralysis	Vocal Cord Paralysis	HPO_DG			★☆☆☆☆ Found in Text Mining only
X-Linked Emery-Dreifuss Muscular Dystrophy	Emery-Dreifuss Muscular Dystrophy, X-Linked	CTD_human_DG			★☆☆☆☆ Found in Text Mining only